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Human Gene Search Results

Unique ID Gene Symbol Gene Name Chromosome Loc Genetic Category Gene Ranking Biallelic # of Variants Associated Disorders # of Reports Primary Reference Display
GEN268 ABAT 4-aminobutyrate aminotransferase 16p13.2 Genetic Association
2
 8 8 Barnby G , et al. 2005 Edit
GEN567 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 16q23.1 Rare single gene variant
2
 Yes 10 7 Peluso I , et al. 2013 Edit
GEN008 AHI1 Abelson helper integration site 1 6q23.3 Rare Single Gene variant
2
 31 22 Alvarez Retuerto AI , et al. 2008 Edit
GEN009 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) 6p22.3 Syndromic
2
 Yes 15 16 Pearl PL , et al. 2003 Edit
GEN011 ANKRD11 ankyrin repeat domain 11 16q24.3 Rare Single Gene variant
5
 262 75 Marshall CR , et al. 2008 Edit
GEN1258 AP1G1 adaptor related protein complex 1 subunit gamma 1 16q22.2 Rare single gene variant
3
 18 4 Usmani MA et al. 2021 Edit
GEN357 ARID1B AT-rich interaction domain 1B 6q25.3 Rare single gene variant
5
 212 86 Nord AS , et al. 2011 Edit
GEN423 BCKDK Branched chain ketoacid dehydrogenase kinase 16p11.2 Rare single gene variant
2
 Yes 21 8 Novarino G , et al. 2012 Edit
GEN029 C4B complement component 4B 6p21.33 Genetic Association
0
 2 6 Odell D , et al. 2005 Edit
GEN035 CACNA1H calcium channel, voltage-dependent, alpha 1H subunit 16p13.3 Rare Single Gene variant
4
 65 34 Splawski I , et al. 2006 Edit
GEN1350 CASKIN1 CASK interacting protein 1 16p13.3 Functional
3
 14 8 Zhou X et al. 2022 Edit
GEN897 CBLN1 cerebellin 1 precursor 16q12.1 Functional
1 6 Krishnan V , et al. 2017 Edit
GEN615 CDH11 cadherin 11 16q21 Rare Single Gene variant/genetic association
3
 19 8 Crepel A , et al. 2014 Edit
GEN1041 CDH13 cadherin 13 16q23.3 Rare single gene variant
2
 13 6 Iossifov I et al. 2014 Edit
GEN044 CDH8 cadherin 8, type 2 16q21 Rare Single Gene variant
2
 11 12 Pagnamenta AT , et al. 2010 Edit
GEN1233 CDK19 cyclin dependent kinase 19 6q21 Rare single gene variant
4
 19 7 Iossifov I et al. 2014 Edit
GEN1303 CHD9 chromodomain helicase DNA binding protein 9 16q12.2 Rare single gene variant
3
 15 8 Iossifov I et al. 2014 Edit
GEN949 CHMP1A charged multivesicular body protein 1A 16q24.3 Syndromic
2
 8 5 De Rubeis S , et al. 2014 Edit
GEN048 CHST5 carbohydrate sulfotransferase 5 16q23.1 Rare Single Gene variant
2
 2 6 O'Roak BJ , et al. 2011 Edit
GEN720 CIBAR2 CBY1 interacting BAR domain containing 2 16q24.1 Rare single gene variant
2
 3 3 Krumm N , et al. 2015 Edit
GEN382 CMIP c-Maf inducing protein 16q23.2-q23.3 Genetic Association
0
 20 6 Van der Aa N , et al. 2012 Edit
GEN1191 CNOT1 CCR4-NOT transcription complex subunit 1 16q21 Rare single gene variant
3
 47 9 Iossifov I et al. 2014 Edit
GEN049 CNR1 cannabinoid receptor 1 (brain) 6q15 Genetic Association
2
 34 8 Chakrabarti B , et al. 2006 Edit
GEN616 CNTNAP4 Contactin associated protein-like 4 16q23.1 Rare Single Gene variant
3
 32 15 Karayannis T , et al. 2014 Edit
GEN1169 CORO1A coronin 1A 16p11.2 Rare single gene variant
2
 4 3 Satterstrom FK et al. 2020 Edit
GEN285 CREBBP CREB binding protein 16p13.3 Syndromic
4
 120 41 Barnby G , et al. 2005 Edit
GEN1254 CSNK2B casein kinase 2 beta 6p21.33 Syndromic
2
 62 11 Poirier K et al. 2017 Edit
GEN549 CTCF CCCTC-binding factor 16q22.1 Functional
4
 84 25 Ishihara K , et al. 2006 Edit
GEN719 CUL7 Cullin 7 6p21.1 Rare single gene variant
3
 27 8 Iossifov I et al. 2014 Edit
GEN059 DCTN5 dynactin 5 16p12.2 Rare Single Gene variant
2
 2 4 O'Roak BJ , et al. 2011 Edit
GEN1094 DLL1 delta like canonical Notch ligand 1 6q27 Rare single gene variant
3
 19 6 O'Roak BJ , et al. 2014 Edit
GEN966 DNAH3 dynein axonemal heavy chain 3 16p12.3 Rare single gene variant
4
 147 8 Krumm N , et al. 2015 Edit
GEN581 DST Dystonin 6p12.1 Rare single gene variant
3
 27 11 Kenny EM , et al. 2013 Edit
GEN323 DUSP22 dual specificity phosphatase 22 6p25.3 Rare Single Gene variant
1 1 Leblond CS , et al. 2012 Edit
GEN1038 ELOVL2 ELOVL fatty acid elongase 2 6p24.2 Genetic association
5 2 Sun C , et al. 2018 Edit
GEN1183 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 6q23.2 Rare single gene variant
3
 10 5 Tran KT et al. 2020 Edit
GEN082 ESR1 estrogen receptor 1 6q25.1-q25.2 Syndromic
0
 5 11 Chakrabarti B , et al. 2009 Edit
GEN085 F13A1 coagulation factor XIII, A1 polypeptide 6p25.1 Functional
2
 7 8 Hu VW , et al. 2006 Edit
GEN087 FABP7 fatty acid binding protein 7, brain 6q22.31 Genetic Association
0
 10 7 Maekawa M , et al. 2010 Edit
GEN097 FRK fyn-related kinase 6q22.1 Genetic Association
2
 3 3 Wang K , et al. 2009 Edit
GEN1264 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 6p22.1 Functional
3
 8 10 Satterstrom FK et al. 2020 Edit
GEN383 GAN Gigaxonin 16q23.2 Rare single gene variant
2
 3 3 Van der Aa N , et al. 2012 Edit
GEN1273 GLG1 golgi glycoprotein 1 16q23.1 Rare single gene variant
2
 5 2 Wilfert AB et al. 2021 Edit
GEN103 GLO1 glyoxalase I 6p21.2 Genetic Association
2
 7 10 Junaid MA , et al. 2004 Edit
GEN107 GPR139 G protein-coupled receptor 139 16p12.3 Rare Single Gene variant
2
 2 6 O'Roak BJ , et al. 2011 Edit
GEN109 GRIK2 glutamate ionotropic receptor kainate type subunit 2 6q16.3 Genetic Association
3
 38 22 Jamain S , et al. 2002 Edit
GEN110 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 16p13.2 Genetic Association
4
 215 63 Barnby G , et al. 2005 Edit
GEN593 GRM1 glutamate metabotropic receptor 1 6q24.3 Rare single gene variant
2
 9 9 Waltes R , et al. 2014 Edit
GEN559 GRM4 Glutamate receptor, metabotropic 4 6p21.31 Functional
0 1 Iscru E , et al. 2013 Edit
GEN1292 H1-4 H1.4 linker histone, cluster member 6p22.2 Syndromic
3
 48 10 Duffney LJ et al. 2018 Edit
GEN1112 H2BC11 H2B clustered histone 11 6p22.1 Rare single gene variant
2
 2 3 Iossifov I et al. 2014 Edit
GEN1306 H4C11 H4 clustered histone 11 6p22.1 Rare single gene variant
2
 4 4 C Yuen RK et al. 2017 Edit
GEN1304 H4C3 H4 clustered histone 3 6p22.2 Syndromic
3
 8 2 Tessadori F et al. 2022 Edit
GEN1305 H4C5 H4 clustered histone 5 6p22.2 Rare single gene variant
3
 22 6 Ruzzo EK , et al. 2019 Edit
GEN1301 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 6q16.3 Rare single gene variant
3
 17 12 Iossifov I et al. 2014 Edit
GEN1135 HIVEP2 HIVEP zinc finger 2 6q24.2 Functional
3
 23 13 Steinfeld H , et al. 2016 Edit
GEN119 HLA-A major histocompatibility complex, class I, A 6p22.1 Genetic Association
7 10 Torres AR , et al. 2006 Edit
GEN795 HLA-B Major histocompatibility complex, class I, B 6p21.33 Genetic association
7 5 Al-Hakbany M , et al. 2014 Edit
GEN1086 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 6p21.32 Genetic association
2
 3 2 Nudel R , et al. 2019 Edit
GEN120 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 6p21.32 Genetic association
9 11 Warren RP , et al. 1996 Edit
GEN973 HLA-G major histocompatibility complex, class I, G 6p22.1 Genetic association
3 4 Guerini FR , et al. 2014 Edit
GEN125 HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 6q21-q22.1 Genetic Association
2
 5 8 Wang K , et al. 2009 Edit
GEN127 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B 6q14.1 Genetic Association
0
 2 6 Orabona GM , et al. 2008 Edit
GEN514 HYDIN HYDIN, axonemal central pair apparatus protein 16q22.2 Multigenic CNV
2
 12 5 Girirajan S , et al. 2013 Edit
GEN841 IFNGR1 interferon gamma receptor 1 6q23.3 Functional
0 1 Filiano AJ , et al. 2016 Edit
GEN794 IL17A Interleukin 17A 6p12.2 Functional
2
 2 3 Choi GB , et al. 2016 Edit
GEN374 JARID2 jumonji and AT-rich interaction domain containing 2 6p22.3 Genetic association
3
 38 18 Weiss LA , et al. 2009 Edit
GEN363 KCTD13 Potassium channel tetramerisation domain containing 13 16p11.2 Rare single gene variant
0
 4 9 Golzio C , et al. 2012 Edit
GEN1124 KDM1B lysine demethylase 1B 6p22.3 Rare single gene variant
2
 4 3 De Rubeis S , et al. 2014 Edit
GEN294 KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 6q11.1 Rare Single Gene variant
2
 6 4 Salyakina D , et al. 2011 Edit
GEN142 KIAA1586 KIAA1586 6p12.1 Rare Single Gene variant
2
 20 6 Bucan M , et al. 2009 Edit
GEN979 LAT linker for activation of T-cells 16p11.2 Functional
0 2 Loviglio MN , et al. 2017 Edit
GEN911 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 6p21.2-p21.1 Rare single gene variant
3
 18 6 Morimura N , et al. 2017 Edit
GEN146 LRRC1 leucine rich repeat containing 1 6p12.1 Genetic Association
2
 6 7 Wang K , et al. 2009 Edit
GEN284 MAPK3 mitogen-activated protein kinase 3 16p11.2 Rare Single Gene variant
3
 13 6 Schaaf CP , et al. 2011 Edit
GEN1359 MED23 mediator complex subunit 23 6q23.2 Rare single gene variant
2
 4 4 Fu JM et al. 2022 Edit
GEN1096 METTL26 methyltransferase like 26 16p13.3 Rare single gene variant
2
 2 2 Iossifov I et al. 2014 Edit
GEN161 MRTFB myocardin related transcription factor B 16p13.12 Genetic Association
3
 13 12 Holt R , et al. 2010 Edit
GEN1391 MTSS2 MTSS I-BAR domain containing 2 16q22.1 Rare single gene variant
4
 13 5 Satterstrom FK et al. 2020 Edit
GEN185 OPRM1 opioid receptor, mu 1 6q25.2 Functional
2
 3 6 Moles A , et al. 2004 Edit
GEN326 PEX7 peroxisomal biogenesis factor 7 6q23.3 Genetic Association
2
 Yes 6 5 Ro M , et al. 2012 Edit
GEN885 PHF3 PHD finger protein 3 6q12 Rare single gene variant
3
 11 5 Iossifov I et al. 2014 Edit
GEN856 PHIP pleckstrin homology domain interacting protein 6q14.1 Rare single gene variant
4
 132 25 Iossifov I et al. 2014 Edit
GEN198 PLN phospholamban 6q22.31 Rare Single Gene variant
1 4 Marshall CR , et al. 2008 Edit
GEN806 POU3F2 POU class 3 homeobox 2 6q16.1 Functional
2
 22 9 Belinson H , et al. 2016 Edit
GEN786 PPP2R5D Protein phosphatase 2, regulatory subunit B', delta 6p21.1 Rare single gene variant
4
 74 33 Shang L , et al. 2015 Edit
GEN201 PRKCB protein kinase C beta 16p12.2-p12.1 Genetic Association
2
 7 8 Philippi A , et al. 2005 Edit
GEN188 PRKN parkin RBR E3 ubiquitin protein ligase 6q26 Genetic Association
2
 50 20 Glessner JT , et al. 2009 Edit
GEN1412 PRR25 proline rich 25 16p13.3 Rare single gene variant
2
 6 2 Cirnigliaro M et al. 2023 Edit
GEN769 PTK7 Protein tyrosine kinase 7 (inactive) 6p21.1 Rare single gene variant
3
 9 8 Sanders SJ , et al. 2015 Edit
GEN001 RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 16p13.3 Genetic Association
2
 86 44 Sebat J , et al. 2007 Edit
GEN1276 RBL2 RB transcriptional corepressor like 2 16q12.2 Syndromic
3
 9 5 Wilfert AB et al. 2021 Edit
GEN637 RIMS1 Regulating synaptic membrane exocytosis 1 6q13 Rare single gene variant
3
 17 11 Dong S , et al. 2014 Edit
GEN486 RNF8 ring finger protein 8 6p21.2 Rare Single Gene variant
Yes 1 2 Morrow EM , et al. 2008 Edit
GEN521 RNPS1 RNA binding protein with serine rich domain 1 16p13.3 Multigenic CNV
1 1 Nguyen LS , et al. 2013 Edit
GEN221 RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 6q27 Rare Single Gene variant
2
 4 5 Marshall CR , et al. 2008 Edit
GEN931 SASH1 SAM and SH3 domain containing 1 6q24.3-q25.1 Rare single gene variant
3
 7 4 Iossifov I et al. 2014 Edit
GEN1384 SCGN secretagogin, EF-hand calcium binding protein 6p22.2 Functional
2
 3 4 Liu Z et al. 2023 Edit
GEN1430 SENP6 SUMO specific peptidase 6 6q14.1 Rare single gene variant
3
 3 4 et al. Edit
GEN1176 SETD1A SET domain containing 1A, histone lysine methyltransferase 16p11.2 Rare single gene variant
3
 31 11 C Yuen RK et al. 2017 Edit
GEN227 SEZ6L2 SEZ6L2 seizure related 6 homolog (mouse)-like 2 16p11.2 Rare Single Gene variant
2
 11 7 Kumar RA , et al. 2009 Edit
GEN1052 SLC22A3 solute carrier family 22 member 3 6q25.3 Functional
0
 1 4 Garbarino VR , et al. 2018 Edit
GEN465 SLC25A27 solute carrier family 25 member 27 6p12.3 Genetic association/functional
1 1 Anitha A , et al. 2012 Edit
GEN860 SLC7A5 solute carrier family 7 member 5 16q24.2 Functional/syndromic
2
 Yes 10 6 Tafrlungeanu DC , et al. 2016 Edit
GEN717 SNX14 Sorting nexin 14 6q14.3 Syndromic
2
 27 10 Akizu N , et al. 2015 Edit
GEN871 SRCAP Snf2 related CREBBP activator protein 16p11.2 Rare single gene variant
5
 65 14 Iossifov I et al. 2014 Edit
GEN1338 SRRM2 serine/arginine repetitive matrix 2 16p13.3 Rare single gene variant
4
 41 13 De Rubeis S , et al. 2014 Edit
GEN598 STXBP5 Syntaxin binding protein 5 (tomosyn) 6q24.3 Rare single gene variant
3
 20 7 Cukier HN , et al. 2014 Edit
GEN1053 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein 6q14.3 Rare single gene variant
4
 33 10 Krumm N , et al. 2015 Edit
GEN244 SYNE1 spectrin repeat containing, nuclear envelope 1 6q25.2 Rare Single Gene variant
3
 46 23 O'Roak BJ , et al. 2011 Edit
GEN245 SYNGAP1 synaptic Ras GTPase activating protein 1 6p21.32 Rare Single Gene variant
5
 238 101 Hamdan FF , et al. 2011 Edit
GEN246 SYT17 synaptotagmin XVII 16p12.3 Genetic Association
2 2 Wang K , et al. 2009 Edit
GEN392 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C 16q24.1 Genetic association
2
 3 3 Anney R , et al. 2012 Edit
GEN1006 TAOK2 TAO kinase 2 16p11.2 Rare single gene variant
4
 25 8 C Yuen RK et al. 2017 Edit
GEN543 TBC1D7 TBC1 domain family member 7 6p24.1 Functional
3 5 Dibble CC , et al. 2012 Edit
GEN757 TERF2 Telomeric repeat binding factor 2 16q22.1 Rare single gene variant
3
 7 8 Iossifov I et al. 2014 Edit
GEN467 TMEM231 transmembrane protein 231 16q23.1 Syndromic
2
 9 5 Srour M , et al. 2012 Edit
GEN1022 TRAF7 TNF receptor associated factor 7 16p13.3 Rare single gene variant
4
 68 10 Neale BM , et al. 2012 Edit
GEN1218 TRAPPC2L trafficking protein particle complex 2 like 16q24.3 Syndromic
2
 9 4 Luo Y et al. 2020 Edit
GEN256 TSC2 tuberous sclerosis 2 16p13.3 Genetic Association
5
 120 56 Smalley SL 1998 Edit
GEN770 USP45 Ubiquitin specific peptidase 45 6q16.2 Rare single gene variant
2
 7 6 Sanders SJ , et al. 2015 Edit
GEN758 USP7 Ubiquitin specific peptidase 7 (herpes virus-associated) 16p13.2 Rare single gene variant
2
 38 15 Hao YH , et al. 2015 Edit
GEN698 UTRN utrophin 6q24.2 Rare single gene variant
3
 16 7 Li J , et al. 2015 Edit
GEN554 VIP vasoactive intestinal peptide 6q25.2 Functional
2
 3 7 Hill JM , et al. 2007 Edit
GEN1211 VWA7 von Willebrand factor A domain containing 7 6p21.33 Rare single gene variant
2
 9 3 Luo Y et al. 2020 Edit
GEN1021 WASF1 WAS protein family member 1 6q21 Syndromic
2
 12 4 Ito Y , et al. 2018 Edit
GEN851 WWOX WW domain containing oxidoreductase 16 Rare single gene variant
2
 42 15 Leppa VM , et al. 2016 Edit
GEN1438 ZFHX3 zinc finger homeobox 3 16q22.2-q22.3 Rare single gene variant
4
 71 12 et al. Edit
GEN854 ZNF292 zinc finger protein 292 6q14.3 Rare single gene variant
4
 52 12 Neale BM , et al. 2012 Edit

 

CNV Search Results

Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
16
Deletion-Duplication
 139
  construct
 
16
Deletion-Duplication
 20
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 25
 
 
16
Duplication
 15
 
 
16
Deletion-Duplication
 19
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 14
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 42
 
 
16
Deletion
 4
 
 
16
Deletion-Duplication
 68
 
 
16
Duplication
 3
 
 
16
Deletion-Duplication
 2
 
 
16
Deletion
 5
 
 
16
Deletion-Duplication
 1
 
 
16
Deletion-Duplication
 10
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 13
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 18
 
 
16
Deletion
 3
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 23
 
 
16
Deletion
 3
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Duplication
 2
 
 
16
Deletion
 4
 
 
16
Deletion
 2
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 9
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 47
 
 
16
Deletion
 3
 
 
16
Deletion
 1
 
 
16
Duplication
 6
 
 
16
Deletion-Duplication
 14
 
 
16
Deletion
 2
 
 
16
Deletion
 6
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 22
 
 
16
Deletion
 5
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 21
 
 
16
Deletion
 2
 
 
16
Deletion-Duplication
 3
 
 
16
Deletion-Duplication
 10
 
 
16
Deletion
 12
 
 
16
Deletion-Duplication
 34
 
 
6
Duplication
 2
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 16
 
 
6
Deletion-Duplication
 12
 
 
6
Deletion-Duplication
 1
 
 
6
Deletion-Duplication
 10
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 12
 
 
6
Deletion-Duplication
 26
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion-Duplication
 2
 
 
6
Deletion-Duplication
 20
 
 
6
Duplication
 2
 
 
6
Deletion-Duplication
 11
 
 
6
Deletion-Duplication
 27
 
 
6
Deletion
 1
 
 
6
Deletion
 7
 
 
6
Deletion
 3
 
 
6
Deletion
 4
 
 
6
Deletion
 2
 
 
6
Deletion
 4
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 12
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Duplication
 1
 
 
6
Deletion-Duplication
 22
 
 
6
Deletion
 1
 
 
6
Duplication
 1
 
 
6
Duplication
 2
 
 
6
Deletion
 3
 
 
6
Deletion
 4
 
 
6
Duplication
 5
 
 
6
Deletion-Duplication
 9
 
 
6
Duplication
 2
 
 
6
Deletion
 2
 
 
6
Deletion-Duplication
 17
 
 
6
Duplication
 4
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 9
 
 
6
Deletion
 6
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 25
 
 
6
Deletion
 1
 
 
6
Deletion
 2
 
 
6
Deletion
 3
 
 
6
Deletion
 1
 
 
6
Duplication
 3
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 13
 
 
6
Duplication
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 16
 
 
6
Deletion
 1
 
 
6
Deletion
 2
 
 
6
Deletion
 5
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 16
 
 
6
Deletion
 2
 
 
6
Deletion-Duplication
 23
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 6
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
N/A
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 24
 
 
6
Deletion
 2
 
 
6
Deletion-Duplication
 5
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 9
 
 
6
Deletion
 2
 
 
6
Duplication
 1
 
 
6
Duplication
 5
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 11
 
 
6
Deletion
 1
 
 
6
Duplication
 1
 
 
6
Deletion
 10
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 7
 
 
6
Deletion
 4
 
 
6
Deletion
 3
 
 
6
Deletion-Duplication
 21
 
 
6
Deletion
 2
 
 
6
Deletion-Duplication
 2
 
 
6
Deletion-Duplication
 48
 
 
6
Deletion
 9
 
 
6
Deletion-Duplication
 33
 

 

Animal Model Search Results

Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Ahi1
 Abelson helper integration site 1
 Mus musculus
 Unknown
 4
 5
 
 Aldehyde Dehydrogenase family 5, subfamily A1
 Mus musculus
 Unknown
 1
 4
 
 ankyrin repeat domain 11
 Mus musculus
 Unknown
 2
 3
 
  Arid1b
 AT rich interactive domain 1B (SWI-like)
 Mus musculus
 
 6
 18
 
  Bckdk
 branched chain ketoacid dehydrogenase kinase
 Mus musculus
 
 3
 3
 
  Bckdk
 branched chain ketoacid dehydrogenase kinase
 Rattus norvegicus
 
 1
 1
 
 calcium channel, voltage-dependent, T type, alpha 1H subunit
 Mus musculus
 Unknown
 1
 1
 
 CASK interacting protein 1
 Mus musculus
 
 1
 1
 
  Cbln1
 Cerebellin 1 precursor protein
 Mus musculus
 
 3
 7
 
 contactin associated protein-like 4
 Mus musculus
 
 1
 7
 
  Gabbr1
 gamma-aminobutyric acid type B receptor subunit 1
 Mus musculus
 
 1
 1
 
  Grik2
 glutamate receptor, ionotropic, kainate 2 (beta 2)
 Mus musculus
 
 2
 4
 
  Htr1b
 5-hydroxytryptamine (serotonin) receptor 1B
 Mus musculus
 Unknown
 1
 2
 
  Ifngr1
 Interferon gamma receptor 1
 Mus musculus
 
 1
 1
 
  kctd13
 potassium channel tetramerization domain containing 13
 Danio rerio
 
 4
 13
 
 CG10465
 Drosophila melanogaster
 
 1
 11
 
  Kctd13
 potassium channel tetramerisation domain containing 13
 Mus musculus
 16p11.2
 2
 6
 
  lat
 linker for activation of T cells
 Danio rerio
 
 1
 12
 
  Lrfn2
 leucine rich repeat and fibronectin type III domain containing 2
 Mus musculus
 
 1
 2
 
  mapk3
 mitogen-activated protein kinase 3
 Danio rerio
 
 2
 2
 
  rl
 rolled
 Drosophila melanogaster
 
 3
 24
 
  Oprm1
 opioid receptor, mu 1
 Mus musculus
 Human 6q24-q25; chr6:154010496-154246867
 2
 3
 
  Pln
 Phospholamban
 Mus musculus
 Unknown
 1
 1
 
  Pou3f2
 POU domain class 3 transcription factor 2
 Mus musculus
 
 1
 2
 
  Prkcb
 Protein Kinase C, beta
 Mus musculus
 Unknown
 1
 1
 
  Prkn
 parkin RBR E3 ubiquitin protein ligase
 Mus musculus
 Unknown
 2
 2
 
  Prkn
 parkin RBR E3 ubiquitin protein ligase
 Rattus norvegicus
 Unknown
 1
 1
 
  Rbfox1
 RNA binding protein, fox-1 homolog
 Mus musculus
 Unknown
 2
 4
 
  Rims1
 regulating synaptic membrane exocytosis 1
 Mus musculus
 6q13
 4
 10
 
  Scgn
 secretagogin, EF-hand calcium binding protein
 Mus musculus
 
 1
 3
 
  Slc7a5
 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
 Mus musculus
 
 2
 3
 
  dom
 domino
 Drosophila melanogaster
 
 1
 1
 
 synaptic Ras GTPase activating protein 1a
 Danio rerio
 6p21.32
 1
 6
 
 CG42684
 Drosophila melanogaster
 
 1
 2
 
 synaptic Ras GTPase activating protein 1 homolog (rat)
 Mus musculus
 Unknown
 9
 16
 
  Tao
 Tao
 Drosophila melanogaster
 
 1
 5
 
  Taok2
 TAO kinase 2
 Mus musculus
 
 2
 12
 
  Tsc2
 tuberous sclerosis 2
 Mus musculus
 Unknown
 10
 25
 
  Tsc2
 tuberous sclerosis 2
 Rattus norvegicus
 Unknown
 3
 3
 
  Usp7
 Ubiquitin specific peptidase 7
 Mus musculus
 
 2
 3
 
  Wwox
 WW domain-containing oxidoreductase
 Rattus norvegicus
 
 3
 1

 

PIN Search Results

Gene Symbol
Gene Name
Number of Interactions
4-aminobutyrate aminotransferase
11
Abelson helper integration site 1
6
aldehyde dehydrogenase 5 family, member A1
8
ankyrin repeat domain 11
30
AT rich interactive domain 1B (SWI1-like)
27
branched chain ketoacid dehydrogenase kinase
23
C4B
complement component 4B (Chido blood group)
10
calcium channel, voltage-dependent, T type, alpha 1H subunit
14
Cadherin-11
2
cadherin 8, type 2
20
c-Maf inducing protein
4
cannabinoid receptor 1 (brain)
1
Contactin-associated protein-like 4
6
CREB binding protein
18
CCCTC-binding factor (zinc finger protein)
54
estrogen receptor 1
16
Fatty acid-binding protein, brain
3
FRK
fyn-related kinase
10
glyoxalase I
11
glutamate receptor, ionotropic, kainate 2
29
Glutamate receptor ionotropic, NMDA 2A
9
major histocompatibility complex, class I, A
18
5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
5
potassium channel tetramerisation domain containing 13
40
KH domain containing, RNA binding, signal transduction associated 2
106
KIAA1586
5
leucine rich repeat containing 1
16
mitogen-activated protein kinase 3
31
PLN
phospholamban
13
POU class 3 homeobox 2
1
protein kinase C, beta
37
protein tyrosine kinase 7
3
RNA binding protein, fox-1 homolog (C. elegans) 1
494
regulating synaptic membrane exocytosis 1
14
ribosomal protein S6 kinase, 90kDa, polypeptide 2
18
Seizure 6-like protein 2
7
sorting nexin 14
18
spectrin repeat containing, nuclear envelope 1
34
synaptic Ras GTPase activating protein 1
19
synaptotagmin XVII
21
telomeric repeat binding factor 2
147
tuberous sclerosis 2
104
ubiquitin specific peptidase 7 (herpes virus-associated)
41
VIP
VIP peptides
8
Heparan sulfate glucosamine 3-O-sulfotransferase 5
0
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